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肿瘤医学病例报告 肌上皮瘤:多骨及软组织病变病例中涉及该位点的一种新重排

Case Reports in Oncological Medicine Myoepithelioma: A New Rearrangement Involving the Locus in a Case of Multiple Bone and Soft Tissue Lesions.

作者信息

Pairet Géraldine, Tilman Gaëlle, Sciot Rafaël, Schubert Thomas, Perlepe Vasiliki, Poirel Hélène A, Galant Christine

机构信息

Department of Pathology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.

Center for Human Genetics, Cliniques Universitaires Saint-Luc-Université catholique de Louvain, Brussels, Belgium.

出版信息

Case Rep Oncol Med. 2018 Feb 27;2018:3512847. doi: 10.1155/2018/3512847. eCollection 2018.

Abstract

We report a case of multiple myoepithelioma with synchronous bone and soft tissue tumors, associated with a new genomic alteration of the locus. The lesions occurred in the foot by presenting one lump in the plantar soft tissue, and three lesions were detected in the calcaneus and in the navicular bone. All tumors showed the double immunophenotype of epithelial markers and S100 protein expression. No rearrangement of the and loci was detected as reported in myoepitheliomas. However, molecular karyotyping detected an unbalanced rearrangement of the locus, not involving the locus, which is the most frequent translocation partner observed in benign mesenchymal tumors such as lipomas (of soft tissue as well as parosteal) and pulmonary chondroid hamartoma.

摘要

我们报告一例伴有同步性骨与软组织肿瘤的多形性肌上皮瘤病例,其与该位点的一种新的基因组改变相关。病变发生于足部,表现为足底软组织有一个肿块,在跟骨和舟状骨中检测到三个病变。所有肿瘤均表现出上皮标志物和S100蛋白表达的双重免疫表型。如在肌上皮瘤中所报道的那样,未检测到 和 位点的重排。然而,分子核型分析检测到 位点的不平衡重排,不涉及 位点, 位点是在良性间叶性肿瘤如(软组织及骨旁)脂肪瘤和肺软骨样错构瘤中最常见的易位伙伴。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c484/5848058/6dd163f32958/CRIONM2018-3512847.001.jpg

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